Physical Sciences and Mathematics Commons^™

Approaches To Estimation Of Haplotype Frequencies And Haplotype-Trait Associations, Xiaohong Li

Doctoral Dissertations 1896 - February 2014

Characterizing the genetic contributors to complex disease traits will inevitably require consideration of haplotypic phase, the specific alignment of alleles on a single homologous chromosome. In population based studies, however, phase is generally unobservable as standard genotyping techniques provide investigators only with data on unphased genotypes. Several statistical methods have been described for estimating haplotype frequencies and their association with a trait in the context of phase ambiguity. These methods are limited, however, to diploid populations in which individuals have exactly two homologous chromosomes each and are thus not suitable for more general infectious disease settings. Specifically, in the context …